Characteristic Cerebrovascular Findings Associated with ACTA2 Gene Mutations.
Characteristic Cerebrovascular Findings Associated with ACTA2 Gene Mutations.
Can J Neurol Sci. 2019 Apr 12;:1-2
Authors: Zhang A, Jo A, Grajewski K, Kim J
Abstract
A specific mutation (Arg179) of the ACTA2 gene has previously been described to cause a syndrome of multisystemic smooth muscle dysfunction with an extremely characteristic cerebrovascular appearance.1 Accurate neuroimaging diagnosis of this entity is important as this syndrome predisposes to complications such as early-onset ischemic stroke and ascending thoracic aortic aneurysm.2,3 The following case demonstrates a previously undescribed ACTA2 mutation (Met46) with an identical cerebrovascular imaging appearance to that of Arg179 mutations, but a less severe overall phenotype.
PMID: 30975232 [PubMed - as supplied by publisher]
Source: The Canadian Journal of Neurological Sciences - Category: Neurology Authors: Zhang A, Jo A, Grajewski K, Kim J Tags: Can J Neurol Sci Source Type: research
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